Recurrent Infections in a 5-Year-Old Boy

Nicholas Bennett, MBBChir, PhD

Disclosures

July 30, 2018

A primary immune deficiency should be considered in anyone with a history of frequent bacterial infections, infections with atypical organisms, or a family history of a primary immune deficiency. CVID is one of the more prevalent symptomatic primary immunodeficiencies and presents with a wide range of symptoms and severity. Diagnosis of CVID cannot be definitively made in patients younger than 4 years because clinical presentation may be confused with other immunologic defects or with physiologic immaturity. The patient in this case was diagnosed at age 5 years.

Interestingly, most cases of CVID are diagnosed in adulthood (age 20 to 40 years), as patients develop symptoms later in life. Recurrent bacterial infections of the ears, sinuses, and lungs occur. Gastrointestinal infections and inflammation can cause recurrent abdominal complaints, weight loss, and intestinal malabsorption. Patients with CVID also have an increased lifetime risk for autoimmune disease (immune thrombocytopenic purpura, autoimmune hemolytic anemia, rheumatoid arthritis), inflammatory bowel disease, and malignancy (non-Hodgkin lymphoma, gastric cancer).[7,8,9]

In more than 90% of cases, the etiology of CVID remains unknown; however, for about 10% of patients, a genetic cause can be defined. Several genes have been identified as contributing to the CVID phenotype.[10,11] Generally speaking, the known genes are involved in B-cell signaling or maturation. Testing using whole-exome sequencing or specific gene array panels for genes associated with immunodeficiency may help with providing counseling to the patient and their family about future risks to themselves or their offspring. Once diagnosed, treatment with prophylactic antibiotics or immunoglobulin infusions is recommended.[12]

Intravenous (IV) and subcutaneous (SC) immunoglobulin products for replacement therapy are available and are mostly equivalent in reducing the rate of infections in patients with CVID. SC immunoglobulin therapy is preferred by both physicians and patients because of the lower rate of infusion reactions, reduced risk of breakthrough infections at the end of a monthly infusion cycle, and the ease of administration in the home environment without the need for skilled nursing support. Consultation with an immunologist or infectious disease specialist familiar with the management of primary immune deficiencies is recommended to monitor therapy, provide counseling, and address complications or risks.

The child in this case was tested using expanded flow cytometry, which revealed low switched memory B cells for age of 0.5% (normal range, 2.9%-17.4%). He was started on IV immunoglobulin replacement therapy. After 3 months, the family agreed to try SC weekly injections of immunoglobulin because of the patient's infusion-related headaches. Since starting SC therapy, the child had a case of otitis media (in the fourth week of the first treatment cycle) but has since been infection-free and is currently tolerating injections, with only mild injection-site reactions.

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